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Genetic and Rare Diseases Information Center (GARD)

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Frank Ter Haar syndrome


Other Names for this Disease

  • Autosomal recessive Melnick-Needles syndrome (formerly)
  • Megalocornea, multiple skeletal anomalies, and developmental delay
  • Ter Haar syndrome
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Overview

Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone (or tail bone), and congenital heart defects are also frequently present. This condition is caused by mutations in the SH3PXD2B gene and is thought to be inherited in an autosomal recessive fashion.[1][2]
Last updated: 8/18/2011

References

  1. Frank-Ter Haar syndrome. Orphanet. April 2008; http://omim.org/entry/249420http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=137834. Accessed 8/18/2011.
  2. Frank-Ter Haar syndrome. Online Mendelian Inheritance of Man (OMIM). MAach 2010; http://omim.org/entry/249420. Accessed 8/18/2011.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Frank Ter Haar syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Autosomal recessive Melnick-Needles syndrome (formerly)
  • Megalocornea, multiple skeletal anomalies, and developmental delay
  • Ter Haar syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.